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Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis.
Scholz, Tasja; Blohm, Martin Ernst; Kortüm, Fanny; Bierhals, Tatjana; Lessel, Davor; van der Ven, Amelie T; Lisfeld, Jasmin; Herget, Theresia; Kloth, Katja; Singer, Dominique; Perez, Anna; Obi, Nadia; Johannsen, Jessika; Denecke, Jonas; Santer, René; Kubisch, Christian; Deindl, Philipp; Hempel, Maja.
Affiliation
  • Scholz T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Blohm ME; Division of Neonatology and Pediatric Intensive Care, Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • van der Ven AT; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Lisfeld J; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Herget T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Kloth K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Singer D; Division of Neonatology and Pediatric Intensive Care, Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Perez A; Division of Neonatology and Pediatric Intensive Care, Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Obi N; Department of Medical Biometrics/Epidemiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Johannsen J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Denecke J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Santer R; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Deindl P; Division of Neonatology and Pediatric Intensive Care, Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Neonatology ; 118(4): 454-461, 2021.
Article de En | MEDLINE | ID: mdl-34237744
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Maladie grave / Unités de soins intensifs Type d'étude: Diagnostic_studies / Guideline / Prognostic_studies / Risk_factors_studies Limites: Humans / Infant Langue: En Journal: Neonatology Sujet du journal: PERINATOLOGIA Année: 2021 Type de document: Article Pays d'affiliation: Allemagne
Texte intégral
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Maladie grave / Unités de soins intensifs Type d'étude: Diagnostic_studies / Guideline / Prognostic_studies / Risk_factors_studies Limites: Humans / Infant Langue: En Journal: Neonatology Sujet du journal: PERINATOLOGIA Année: 2021 Type de document: Article Pays d'affiliation: Allemagne